A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471027



Internal ID248772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159649766..159650046hg38UCSC Ensembl
chr5:159076773..159077053hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975316
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471027
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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